Le Diko - en:fibroblasts show increased sensitivity to apoptosis

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Le Diko - en:fibroblasts show increased sensitivity to apoptosis

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le dictionnaire d'associations lexicales
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en:fibroblasts show increased sensitivity to apoptosis

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:serum transferrin shows normal or mild hypo-glycosylation

•

en:increased urinary potassium

•

en:serum c-reactive protein may be increased

•

en:cytogenetics - recombinant chromosome 8 characterized by duplication of 8q22.1-qter and deletion of 8pter-p23.1

•

en:decreased plasma and urinary guanidinoacetate (gaa)

•

en:decreased serum alpha-2 macroglobulin levels

•

en:defect in mitochondrial and peroxisomal fission

•

en:deletion of chromosome 18p11.2

•

en:electron microscopy of patient respiratory cells shows defects of outer dynein arms

•

en:elevated 8(9)-cholestenol

•

en:increased csf protein during acute illness

•

en:increased soluble il2 receptor

•

en:increased creatinine

•

en:mitochondria dna deletion

•

en:hypoprebetalipoproteinemia

•

en:normal platelet aggregation response to epinephrine, arachidonic acid (aa), adenosine 5'-diphosphate (adp), collagen, and ristocetin

•

en:prolonged prothrombin and partial thromboplastin times

•

en:low plasma tryptophan (inflammatory type b)

•

en:increased serum 18-hydroxycorticosterone (18-ohb)

•

en:normal igg levels

•

en:elevated urinary ornithine, lysine, arginine

•

en:cytosolic phosphoenolpyruvate carboxykinase deficiency

•

en:aldosterone level increased above normal

•

en:abetalipoproteinemia (lab finding)

•

en:tsh decreased

•

en:variable defects of inner dynein arms

•

en:biotinidase deficiency

•

en:electrolyturia (1 patient)

•

en:elevated liver transaminases

•

en:frequent inv(10)(q11.2q21) producing chimeric transforming sequence ret/ptc

•

en:hyperammonemia

•

en:increased chromosomal rearrangements (bone marrow and fibroblast culture)

•

en:normal or increased serum creatine kinase

•

en:patient cells have increased levels of lmnb1 mrna and protein

•

en:tyrosinemia (transient, resolves in infancy)

•

en:sce normal in heterozygotes

•

en:decreased triiodothyronine level

•

en:increased peripheral blood monocytes

•

en:serum triglycerides normal

•

en:decrease or absence of cathepsin d (ctsd) protein immunostaining

•

en:reduced electroretinogram (scotopic > photopic) becoming extinguished in older patients

•

en:increased urinary cystine, arginine, lysine, and ornithine (hcs and 2p21del)

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

en:increased creatine kinase (ck)

•

en:hyperglycemias, postprandial

•

en:elevated urine ceramide levels

•

en:systemic accumulation of very long chain fatty acids (vlcfa)

•

en:dilated rough endoplasmic reticulum (rer)

•

en:amorphous hyaline substance (skin biopsy and visceral organs)

•

en:decreased udp-glcnac

•

en:elevated acth

•

en:elevated urinary pge(2) levels

•

en:igg, elevated

•

en:increased serum s-adenosylmethionine

•

en:increase urinary excretion of lysine, arginine, and ornithine

•

en:interstitial deletion of 17p11.2 (most common is 3.7mb)

•

en:normal-to-decreased plasma glycine (fasting)

•

en:serum bicarbonate increased

•

en:normal dermal hydroxylysine content

•

en:urinary calcium-creatinine ratio < 0.01:1 supports diagnosis

•

en:decreased serum haptoglobin

•

en:elevated resting serum lactate, increased with exercise

•

en:elevated serum phosphorus

•

en:heparin cofactor ii deficiency (disorder)

•

en:hypernatremia

•

en:increased disialotransferrin and asialotransferrin levels

•

en:pyruvate-induced insulin secretion

•

en:severely decreased activity of beta-1,4-mannosyltransferase (less than 10% of normal)

•

en:increased serum total cholesterol

•

en:neuraminidase deficiency (white blood cells, fibroblasts, cultured amniotic cells)

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:increased urinary excretion of gamma-aminobutyric acid (gaba)

•

en:normal extrarenal responses to ddavp administration

•

en:increased csf taurine

•

en:decreased serum follicle-stimulating hormone (fsh)

•

en:decreased activity of aromatic l-amino acid decarboxylase (aadc)

•

en:decreased 3-beta-hydroxysteroid-delta-5-desaturase (sc5d)

•

en:normal blood lactate

•

en:decreased heme-heme interaction (e.g. hb kanagawa 141800.0169)

•

en:decreased activity of mitochondrial complex i

•

en:normal exocrine pancreatic function

•

en:thrombocytosis (in some patients)

•

en:schirmer test shows alacrima

•

en:pms show deficient oxidation of debrisoquine

•

en:thrombocytopenia, mild-moderate (60-100 x 10(9)/l)

•

en:intermittent ethylmalonic aciduria

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:impaired platelet aggregation

•

en:hyponatremia

•

en:hereditary fructose intolerance

•

en:myoglobinuria after exertion (in some patients)

•

en:absence of emerin by immunohistochemistry on muscle biopsy

•

en:chromosomal rearrangement

•

en:decreased csf homovanillic acid (hva)

•

en:elevated erythrocyte adenosine deaminase (eada)

•

en:hyperhomocystinemia

•

en:increased growth hormone (in 1 of 2 patients)

•

en:increased serum lactate dehydrogenase (ldh)

•

en:increased urinary, plasma, and csf n-carbamyl-beta-alanine

•

en:cd4+/cd8+ ratio often reversed

•

en:skeletal muscle shows decreased activities of mitochondrial respiratory complexes i, iii, iv, and v

•

en:decreased activity of 3-methylcrotonyl-coa carboxylase (less than 2%)

•

en:elevated 17-hydroxyprogesterone

•

en:gamma-glutamylcysteine deficiency

•

en:hyperchloremia (mean 114 mm)

•

en:hyperlipoproteinemia type i

•

en:lack of lysosomal inclusions in visceral organs

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:normal apoa-ii levels in homozygotes

•

en:decreased-absent intestinal mucosa lactase activity

•

en:elevated creatine kinase (in some patients)

•

en:increased serum cholesterol (in 3 of 10 patients)

•

•

en:hypercholesterolemia (in 75%)

•

en:low or undetectable insulin

•

en:elevated alkaline phosphatase

•

en:decreased or absent histidase activity

•

en:decreased leptin

•

en:decreased c3 activity

•

en:2,8-dihydroxyadenine (dha) urinary stones

•

en:increased urinary mannose-containing oligosaccharides

•

en:chronic hypoxemia

•

en:normal ciliary structure and function

•

en:hepatic gamma-cystathionase deficiency

•

•

en:low to low-normal magnesium

•

en:increased blood alanine

•

en:methylmalonic aciduria

•

en:elevated blood spot hydroxybutyryl carnitine

•

en:cytogenetic breakpoints range from 10q23.3-q26.2

•

•

en:reduced ferrochelatase activity

•

en:reduced erythrocyte adenosine deaminase activity

•

en:alpha ketoadipic aciduria

•

en:decreased xanthine dehydrogenase activity

•

en:elevated serum levels of follicle stimulating hormone (fsh)

•

en:elevated serum phosphate in heterozygotes

•

en:peroxisome deficiency

•

en:pms excrete 10 to 200 times less metabolite in urine than wildtype (em)

•

en:some cilia show central complex and radial spoke defects

•

en:hypocholesterolemia

•

en:decreased activity of mitochondrial respiratory chain complex i

•

en:increased di- and asialo-transferrin characteristic of type 1 pattern

•

en:increased serum aryl-sulfatase a (10-20x)

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

en:myelin basic protein measurement, spinal fluid

•

en:serum mitochondrial autoantibodies

•

en:transcobalamin ii deficiency

•

en:polyploid sperm heads

•

en:absent-decreased prolyl 3-hydroxylation at collagen i alpha-1 pro986

•

en:decreased aminoacylase-1 activity

•

en:defective bile acid metabolism

•

en:electron microscopy of patient respiratory cells shows absent outer dynein arms in the axoneme

•

en:fibroblasts show decreased peroxisomes arranged in rows

•

en:hyperprostaglandinuria

•

en:increased serum glycine, leucine, isoleucine, valine

•

en:normal to elevated total plasma carnitine

•

en:elevated urinary and csf ribitol and d-arabitol

•

en:decreased csf 3-methoxy-4-hydroxyphenylethyleneglycol (mhpg)

•

en:normal or mildly increased serum gamma-ggt (231950)

•

en:variable respiratory chain enzyme deficiency

•

en:serum homocysteine normal

•

en:phosphomannomutase deficiency in leukocytes, fibroblasts, or liver

•

en:decreased mitochondrial complex iii activity seen in muscle

•

en:microdeletion 22q11.2

•

en:elevated csf amino acids (arginine, ornithine, aspartate, threonine, glycine, and methionine)

•

en:elevated antinuclear antibody (ana) (speckled pattern)

•

en:low serum igg and iga

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

en:increased serum, cerebrospinal fluid, and urinary levels of alpha-aminoadipic semialdehyde

•

en:increased serum acyl carnitines

•

en:increased serum direct bilirubin

•

en:increased serum ferritin

•

en:increased serum lactate

•

en:increased urinary 2-methyl-3-hydroxybutyric acid

•

en:increased total and conjugated bilirubin

•

en:increased urinary 2-alpha-ketoglutaric acid

•

en:increased urinary 2-methylacetoacetic acid

•

en:increased urinary o-hydroxyphenylacetic acid, phenylpyruvic acid, phenylacetic acid and phenylacetylglutamine

•

en:increased plasma creatine

•

en:intracellular accumulation of unesterified cholesterol

•

en:isochromosome 12p (i(12p))

•

en:increased pristanic acid

•

en:hyperuricuria

•

en:increased plasma and urinary pipecolic acid

•

en:hyperkalemia during attacks

•

en:hawkinsinuria

•

en:heparan sulfate excretion in urine

•

en:homocystinemia

•

en:hyperammonemia after protein intake

•

en:hyperbilirubinemia

•

en:hyperbilirubinemia in those with liver failure

•

en:hyperlipidemia

•

en:increased 18-oxocortisol

•

en:hyperphenylalaninemia

•

en:hypertriglyceridemia, transient

•

•

en:hypoproteinemia due to hypercatabolism

•

en:impaired carnitine uptake in muscle, heart, kidney, fibroblasts, and lymphocytes

•

en:inclusion bodies (membrane-bound vacuoles) in fibroblasts

•

en:ketonuria, acute

•

en:low serum alkaline phosphatase in heterozygotes

•

en:lactate pyruvate ratio normal

•

en:pcs involves most of all chromosomes of a metaphase

•

en:no hematuria

•

en:parathyroid hormone level increased

•

en:partial deficiency of factor xi (less common)

•

en:partial terminal deletion of short arm of chromosome 1 (1p36)

•

en:patients with factor xiii alpha subunit deficiency usually also have decreased levels of plasma factor xiii beta subunit

•

en:patient cells show defective transcription-coupled and global genome nucleotide excision repair (ner)

•

en:plasmalogen deficiency

•

en:normal serum phosphorus

•

en:pseudohypertriglyceridemia in adult form

•

en:serum c-peptide and glucagon levels measurable

•

en:serum ferritin normal

•

en:serum growth hormone increased

•

en:some tissues may have normal levels of 3-hydroxyacyl-coa dehydrogenase activity

•

en:thyroid dyshormonogenesis 4

•

en:normal sweat chloride (3 of 3 patients)

•

en:normal or mildly decreased arylsulfatase a activity

•

en:lacunar halos around chondrocytes in skeletal cartilage

•

en:mildly elevated creatine phosphokinase (cpk) (120270.0002)

•

en:long-chain dicarboxylic aciduria

•

en:low or absent adrenocorticotropic hormone (acth) in some patients

•

en:granular osmiophilic cytoplasmic deposits ultrastructurally in cells

•

en:low to absent high density lipoprotein (hdl) (detroit 107680.0011)

•

en:low urinary orotic acid

•

en:microscopic hematuria

•

en:mildly elevated transaminases

•

en:normal lysyl oxidase activity

•

en:mildly increased serum creatine kinase (in some patients)

•

en:mild elevation of transaminases

•

en:myoglobinuria

•

en:normal csf 5-hydroxyindoleacetic acid (5-hiaa)

•

en:normal igm levels

•

en:normal lysosomal hydrolases

•

en:granular osmiophilic deposits (grod) in cells resulting in 'rectilinear' profiles ultrastructurally

•

en:fibroblasts show decreased activity of mitochondrial respiratory complex i, complex iii, complex iv, and complex v

•

en:glycogen storage disease type vi

•

en:decreased activity of 2-methyl-3-hydroxybutyryl co-a dehydrogenase

•

en:decreased neopterin and biopterin in csf

•

en:decreased n-acetylglucosamine-1-phosphotransferase (glcnac - phosphotransferase) using lysosomal enzymes

•

en:decreased monoamine oxidase a activity

•

en:decreased lipid-linked oligosaccharides (llo)

•

en:decreased levels of component x protein of the pdh complex

•

en:decreased insulin receptor binding

•

en:decreased hexokinase activity in red blood cells

•

en:decreased hdl cholesterol

•

en:decreased erythrocyte lactate clearance (transport), 40 to 50% of normal values

•

en:decreased eno3 activity

•

en:decreased dna excision repair

•

en:decreased csf methyltetrahydrofolate (mthf)

•

en:decreased activity of the pyruvate dehydrogenase complex (highly variable, 1-70% of controls)

•

en:decreased activity of mitochondrial respiratory complexes

•

en:decreased acid sphingomyelinase activity

•

en:decreased plasma serine

•

en:absent axonal flare response after intradermal histamine injection

•

en:urine occasionally port-wine in color secondary to porphobilinogen

•

en:aberrant gamma-interferon-mediated inflammation

•

en:abnormal isoelectric focusing of serum transferrin (type 1 pattern) loss of complete n-glycans

•

en:abnormal liver function tests (less common)

•

en:absence of chylomicrons in lymph and plasma

•

en:absent/reduced protein s and normal total proteins in heterozygote

•

en:affected mother has normal plasma zinc levels and is not zinc-deficient

•

en:cytoplasmic lamellar inclusions consistent with neuronal ceroid lipofuscinosis (in some patients)

•

en:alkaline phosphatase serum increased

•

en:aminoaciduria, mild (in some patients)

•

en:aminoaciduria (in some patients)

•

en:citrullinemia

•

en:creatine decreased

•

en:cytogenetic deletion of chromosome 17p13.3

•

en:decreased or absent gch1 activity

•

en:decreased respiratory chain complex iii activity in multiple tissues

•

en:glomerular filtration rate decreased

•

en:elevated serum parathyroid hormone (pth)

•

en:elevated hepatic transaminases

•

en:elevated plasma methionine (methioninemia)

•

en:elevated prothrombin time

•

en:elevated serum angiotensin-converting enzyme (ace)

•

en:elevated serum insulin-to-c-peptide ratio

•

en:elevated serum levels of 2-prime deoxyadenosine

•

en:elevated serum protein

•

en:elevated csf glycine

•

en:elevated sweat chloride (some)

•

en:elevated urinary and csf 5-amino-4-imidazolecarboxyamide (aica-riboside)

•

en:factor vii deficiency

•

en:fibrinogen decreased

•

en:fragmentation of the mitochondrial network

•

en:fumarase activity (mitochondrial and cytosolic) is decreased

•

en:elevated gamma-glutamyltransferase

•

en:elevated csf/plasma glycine ratio

•

en:decreased serum ceruloplasmin

•

en:defective mitochondrial respiratory enzyme activity

•

en:decreased serum igm

•

en:decreased serum l-transferrin (heterozygous patient)

•

en:decreased serum rt3

•

en:decreased thyroxine level

•

en:decreased t cells

•

en:decreased urinary excretion of uromodulin

•

en:defect in oxidative phosphorylation

•

en:elevated ammonia

•

en:deficiency of fat-soluble vitamins

•

en:deficiency of glycoprotein (gp)iib-iiia complex

•

en:deficiency of laminin in basement membranes

•

en:deficiency of phosphatidylinositol (4,5) bisphosphate 5-phosphatase (ptdins(4,5)p(2) 5-phosphatase) in cultured fibroblasts

•

en:dolichyl-p-glc:man(9)glcnac(2)-pp-dolichyl glucosyltransferase deficiency

•

en:elevated alkaline phosphatase (in one patient)

•

en:undetectable urinary hypoxanthine

•

en:cellular arrest at g2 of the cell cycle

•

en:urine osmolarity decreased

•

en:increased urinary organic acids (in some patients)

•

en:increased urinary, plasma, and csf n-carbamyl-beta-aminoisobutyric acid

•

en:increased urinary 2-butanone

•

en:increased urinary 2-ketoglutarate (variable)

•

en:increased urinary 7-biopterin (primapterin)

•

en:increased urinary creatine

•

en:increased urinary glycerol

•

en:increased urinary propionyl glycine

•

en:increased sodium-potassium pump activity

•

en:increased vitamin e (alpha-tocopherol) levels

•

en:intermittent 3-methylglutaconic aciduria

•

en:intracellular redox disturbance (reduced cytoplasm and oxidized mitochondria (group b))

•

en:iron binding capacity total increased

•

en:isovaleric acidemia

•

en:karyomegaly may be found in other visceral organs

•

en:increased tissue levels of triglycerides

•

en:increased serum unconjugated bilirubin

•

en:lactic acidosis

•

en:increased igm level

•

en:inclusions contain phospholipids, phosphatidylcholine, sphingolipids, gangliosides, mucopolysaccharides

•

en:increased alpha-fetoprotein in the mother during early pregnancy while carrying an affected fetus

•

en:increased csf and plasma gaba

•

en:increased d-glyceric acid in serum, urine, and csf

•

en:increased erythrocyte sedimentation rate, episodic

•

en:increased histidine in blood, urine, and csf

•

en:increased intracellular fmrp mrna

•

en:increased serum transaminases (in 1 of 3 patients)

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

en:increased prevalence among the native american lumbee indians

•

en:increased serum gamma-ggt (231950)

•

en:increased serum lactate (mild)

•

en:increased serum lipoproteins

•

en:increased serum pyruvate

•

•

en:lipid vacuoles in leukocytes (jordan bodies)

•

en:iduronate sulfatase deficiency in fibroblasts, amniocytes and white blood cells

•

en:stimulation of sympathetic fibers results in release of dopamine, not norepinephrine

•

en:reduced cd4+ count and proportionally increased cd8+ count

•

en:serum aldosterone elevated

•

en:serum cortisol decreased

•

en:serum lactate is usually normal

•

en:severe thrombocytopenia (30-60 x 10(9)/l)

•

en:some cilia show abnormal beating patterns or immotility

•

en:transmission electron microscopy (tem) of patient respiratory cilia shows normal 9+2 axonemal composition

•

en:premature separation of centromeric heterochromatin

•

en:urocanase deficiency

•

en:ultra large von willebrand factor (ul-vwf) in plasma

•

en:unprocessed 3-oxoacyl coa thiolase

•

en:urine uric acid decreased

•

en:uroporphyrinogen iii cosynthase (uro cosynthase) deficiency in blood and fibroblasts

•

en:very low leptin level

•

en:presence of glial fibrillary acidic proteins (gfap) in astrocytes

•

en:positive urinary bratton-marshall test

•

en:low csf creatine

•

en:mild-moderate prolonged bleeding time

•

en:low density lipoprotein increased

•

en:low serum alpha-fetoprotein (recessive)

•

en:low serum uric acid

•

en:march myoglobinuria

•

en:methemoglobin concentration 12 to 19%

•

en:microsomal hmg-coa reductase decreased

•

en:mildly elevated creatine phosphokinase

•

en:patient cells show defective dna repair in response to irradiation and free radical damage

•

en:normal phytanic acid

•

en:normal plasma phytanic acid

•

en:normal serum folate levels

•

en:normal serum lipoprotein levels

•

en:other cytogenic abnormalities have been associated with dgs phenotype including monosomy 10p13, 11p13, and 4q21

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

en:impaired synthesis of fibroblast sulfated proteoglycans

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

en:hypertriglyceridemia (in some patients)

•

en:carriers have balanced constitutional translocation - 46,xx(or xy), +(11:22)(q23:q11)

•

en:decreased formation of complex (tri-, tetra-antennary) n-glycans

•

en:decreased fibrillin-1 immunostaining in the dermis

•

en:decreased csf serine

•

en:decreased csf hypocretin

•

en:decreased beta-thromboglobulin

•

en:decreased activity of triosephosphate isomerase

•

en:decreased activity of the e2 subunit (lipoyl transacetylase, 608770) of the pdh

•

en:decreased activity of ppt1

•

en:cytoplasmic lamellar concentric inclusions

•

en:creatine kinase levels may normalize with disease progression

•

en:chromosome deletion extending from 8q24.11 to 8q24.13

•

en:chromosomal mosaicism in fibroblast and/or peripheral lymphocytes no consistent karyotypic finding

•

en:cholesterol normal

•

en:cerebrospinal fluid lymphocytosis

•

•

en:decreased plasma esterified cholesterol

•

en:absent anti-insulin receptor antibodies

•

en:very low iga

•

en:hypermagnesiuria

•

en:'rectilinear profiles' ultrastructurally in cells

•

en:2-aminoadipic aciduria

•

en:abnormal serum lipoprotein levels (in 3 of 10 patients)

•

en:absence of cd59 expression on red cells

•

en:accumulation of sulfatides, glycosaminoglycans, sphingolipids, and steroid sulfates in tissues and body fluids

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

•

en:alanine aminotransferase increased

•

en:aminoaciduria, intermittent

•

en:amylo(1,4 - 1,6) transglucosidase deficiency (brancher enzyme)

•

en:amyloidosis, (iowa type 107680.0010, nonneuropathic 107680.0016)

•

en:androgens increased

•

en:decreased gtp cyclohydrolase i activity (about 20% of normal)

•

en:abnormal extrarenal response to ddavp (no increase in von willebrand factor or factor viii)

•

en:decreased platelet derived growth factor

•

en:hematuria, gross and microscopic

•

•

en:galactocerebroside beta-galactosidase deficiency in serum, leukocytes, and fibroblasts

•

en:granular osmiophilic deposits (grod) in cells

•

en:greatly increased dopamine in plasma, urine, csf (approximately 10-fold increase)

•

en:hair bulb tyrosinase present

•

en:hb h erythrocyte inclusions

•

en:hemoglobin f increased

•

en:foam cells contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy

•

en:hepatic lipase deficiency (disorder)

•

en:high nonceruloplasmin-bound serum copper

•

en:hyperchloridura

•

en:hypercalciuria (in childhood)

•

en:hyperlactemia

•

en:decreased sulfite oxidase activity

•

en:foam cells in visceral organs and cns

•

en:homocysteinemia (in some patients)

•

en:fibroblasts shows defects in oxidative phosphorylation

•

en:elevated free carnitine

•

en:deficiency of fructokinase

•

en:deficiency of serum properdin p factor

•

en:decreased urocanic acid in blood, urine, and skin cells

•

en:electron microscopy of patient respiratory cells shows absent outer dynein arms

•

en:elevated erythrocyte adenosine deaminase activity

•

en:elevated fasting triglycerides (seen in heterozygotes as well)

•

en:echocardiogram abnormal

•

en:elevated plasma branched chain amino acids (leucine, isoleucine, valine)

•

en:elevated serum parathyroid hormone (pth) level

•

en:elevated serum transferrin saturation

•

en:elevated urinary phosphoethanolamine

•

en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency

•

en:erythroid colony-forming units show spontaneous growth in the absence of epo

•

en:elevated plasma luteinizing hormone (lh)

•

en:methionine adenosyltransferase deficiency

•

en:low or absent growth hormone (gh)

•

en:low or absent thyrotropin (tsh)

•

en:low rai (radioactive iodine) uptake

•

en:low serum ceruloplasmin

•

en:normal cd8+/cd4+ ratio

•

en:n-acetylgalactosamine-6-sulfatase deficiency in fibroblasts and leukocytes

•

en:nonketotic hypoglycemia

•

en:normal iga levels

•

en:normal sedimentation rate

•

en:normal serum cobalamin

•

en:normal serum erythropoietin (epo, 133170)

•

en:low fasting glucose (in some patients)

•

en:increased urinary lactate

•

en:lower total cholesterol

•

en:liver enzymes abnormal

•

en:karyotype analysis normal finding

•

en:increased urinary tiglylglycine

•

en:increased urinary sialylglycopeptides

•

en:increased urinary orotic acid (in some patients)

•

en:increased serum acylcarnitines

•

en:increased urinary cortisol/cortisone ratio

•

en:increased urinary alpha-ketoglutaric acid, intermittent

•

en:increased urinary 2-hydroxybutyrate

•

en:increased urinary, plasma, and csf d-2-hydroxyglutaric acid

•

en:increased serum ratio of corticosterone to 18-hydroxycorticosterone (18-ohb)

•

en:increased serum c26-bile-acid intermediates

•

en:increased serum bilirubin due to hemolysis

•

en:increased serum and csf lactate

•

en:normal serum plasmalogen

•

en:presence of pc mrna

•

en:normal to increased plasma threonine

•

en:relatively low urinary pge-m levels

•

en:abnormal bone marrow karyotype, t(8,21)

•

en:increased n-acetyl-l-aspartic acid (naa) in urine, csf, and blood

•

en:'cloudy' or 'pink' blood (lipemia)

•

en:very low igm

•

en:urinary excretion of 3-hydroxyisovaleric acid, chronic

•

en:type iii collagen defect

•

en:translocation between 18q21 and 14q32

•

en:transferase deficiency galactosemia

•

en:systemic amyloidosis may occur

•

en:shortened telomeres (classic feature, nola3 patient)

•

en:shortened metaphase

•

en:serum testosterone decreased

•

en:serum acid phosphatase normal

•

en:routine liver function tests normal

•

en:reduced ige levels

•

en:normal to slightly high alkaline phosphatase

•

en:prolidase deficiency

•

en:presence of cytochrome b(-245)

•

en:platelet function test normal

•

en:platelet count normal

•

en:plasma aldosterone normal

•

en:phosphorylase kinase normal in muscle

•

en:patient cells show a defect in transcription-coupled and global genome nucleotide excision repair

•

en:partial deficiency of factor xiii(c)

•

en:p5c levels increased in urine

•

en:osteocalcin increased

•

en:organic aciduria (elevated beta-hydroxyisovalerate, lactate, beta-methylcrotonylglycine, beta-hydroxypropionate, methylcitrate)

•

en:normocalcemia

•

en:normal urinary 17-ketosteroids

•

en:normal transferrin saturation

•

en:increased platelet aggregation with ristocetin

•

en:electrocardiogram abnormal

•

en:increased levels of dihydroxyacetone phosphate (dhap) in tissues and red cells

•

en:chromosomal mosaicism in cultured cells

•

en:decreased serum glucosyltransferase (ggt) activity

•

en:decreased plasma gonadotrophin

•

en:decreased palmitate oxidation

•

en:decreased or absent serum ceruloplasmin

•

en:decreased or absent dihydropteridine reductase activity

•

en:decreased or absent ciliary motility

•

en:decreased metabolism of thiopurine drugs

•

en:decreased fibroblast iduronate sulfatase

•

en:decreased activity of pyruvate decarboxylase (e1 component)

•

en:decreased activity of phosphoglycerate kinase 1

•

en:cystathioninuria (lab finding)

•

en:chronic hypercapnia

•

en:chromosome 11q23.3 deletion

•

en:chromosomal breakage and abnormalities of the juxtacentromeric regions of chromosomes 1, 9, and 16

•

en:deficiency or absence of cytochrome b(-245)

•

en:cerebrospinal fluid oligoclonal bands

•

en:calcium normal

•

en:branched chain ketoaciduria (alpha-keto isocaproate, alpha-keto-beta methylisovalerate, alpha-keto isovalerate)

•

en:balanced/unbalanced chromosomal translocation t(2,13)(q36,q11)

•

en:associated with serum anti-phospholipid antibodies in about 50% of patients

•

en:absence of outer dynein arms

•

en:abnormal spinocerebellar tracts, dorsal columns, pyramidal tracts, cerebellum and brainstem

•

en:abnormal serum transferrin pattern (in some patients)

•

en:abnormal serum glycoproteins

•

en:abnormal liver function test

•

en:abnormal dystrophin on muscle biopsy

•

en:abnormal acylcarnitine profiles

•

en:3-methylglutaconic aciduria (3-mgc)

•

en:abnormal urinary mucopolysaccharides (elevated unsaturated nonsulfated disaccharides and decreased unsaturated 6-sulfated disaccharides)

•

en:decreased serum trypsinogen

•

en:disseminated intravascular coagulation

•

en:increased il-6

•

en:hypoglycorrhachia (low glucose in csf)

•

en:increased hepatic parenchymal cell stainable iron

•

en:increased gamma-aminobutyric acid in plasma, urine, and cerebrospinal fluid (csf)

•

en:increased fibroblast free sialic acid

•

en:increased disialo- and asialotransferrin

•

en:increased csf, plasma, and urinary 5-hydroxytryptophan (5htp)

•

en:increased ck-mb

•

en:increased c10:2-carnitine

•

en:inappropriately normal to low-normal serum 1,25-dihydroxyvitamin d3

•

en:impairment of urinary concentration

•

en:impaired long-chain fatty acid oxidation during prolonged, low-intensity exercise

•

en:immotile or weakly motile cilia

•

en:i-cell disease

•

en:hyposthenuria (inability to concentrate urine normally)

•

en:hypokalemia during attacks

•

en:hypergammaglobulinemia

•

en:elevated apoa-i (1.8x normal) in homozygotes

•

en:hyperbilirubinemia, unconjugated, 20-30mg/dl

•

en:hydroxyprolinuria

•

en:high newborn serum levels of immunoreactive trypsinogen

•

en:glutaric aciduria

•

en:gaucher disease, type 1

•

en:fibroblasts show global defects in multiple mitochondrial respiratory chain activities

•

en:ethylmalonic aciduria

•

en:elevated urine unsulfated chondroitin sulfate

•

en:elevated urinary epinephrine

•

en:elevated urinary delta-aminolevulinic acid

•

en:elevated serum alpha-fetoprotein

•

en:elevated progesterone

•

en:elevated hcg or afp or both (embryonal carcinoma)

•

en:elevated gastrin concentration

•

en:abnormal lipid profile

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:absent dystrophin on muscle biopsy

•

en:increased urinary and serum glycine

•

en:low or absent luteinizing hormone (lh)

•

en:low levels of cd11/cd18 (lfa-1 or leukocyte function antigen-1) glycoprotein

•

en:loss of galactose and sialic acid from multiple branches of complex type n-glycans (in some patients)

•

en:lack of ciliary motility

•

en:iron overload (in some patients)

•

en:intracellular granular material on ultrastructural analysis

•

en:indirect hyperbilirubinemia

•

en:increased urinary sulfatide excretion

•

en:increased urinary succinic acid

•

en:increased urinary s-sulfocysteine

•

en:increased urinary excretion of l-xylulose

•

en:increased urinary excretion of cystine

•

en:increased urinary dicarboxylic acid, transient

•

en:increased urinary 2-oxoglutaric acid

•

en:marked hypobetalipoproteinemia

•

en:increased urinary 2-methylbutyrylglycine

•

en:increased susceptibility to ebv infection

•

en:increased serum thyrotropin

•

en:increased serum pyruvate in acute stage

•

en:increased serum manganese

•

en:increased serum c-reactive protein (crp, 123260)

•

en:increased serum alanine

•

en:increased serum, urinary, and csf lysine

•

en:increased plasma proinsulin

•

en:increased plasma levels of very long-chain fatty acids (vlcfa)

•

en:increased neopterin in urine and csf

•

en:increased lysine in serum and csf

•

en:increased interferon-alpha signal

•

en:increased ige level

•

en:low serum acth

•

en:mean platelet volume (mpv) 12.6fl

•

en:increased csf protein

•

en:prolonged prothrombin time (pt)

•

en:absent pro alpha 2(i) chain synthesis (fibroblasts)

•

en:xanthine nephrolithiasis

•

en:urine cortisol, increased

•

en:type ii, normal antithrombin iii level but decreased activity

•

en:transient neonatal hypocalcemia (2p21del)

•

en:transient hyperlipidemia

•

en:spongy degeneration of brain on histology

•

en:slightly increased serum alkaline phosphatase may occur

•

en:serum creatine kinase 20-70 times normal

•

en:sepiapterin reductase deficiency (fibroblasts)

•

en:rheumatoid factor negative

•

en:renin decreased

•

en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material

•

•

en:prolonged bleeding time (10 - >30 minutes)

•

en:methylglutaconic aciduria, mild

•

•

en:postprandial hyperglycemia (early in disease course)

•

en:positive antinuclear antibody test

•

en:phosphorylase kinase deficiency in liver and muscle

•

en:no evidence of common prenatal infections

•

en:no c8 antigen detected

•

en:normal to slightly elevated plasma cholesterol

•

en:normal serum phytanic and pristanic acid

•

en:normal renin level

•

en:normal male karyotype (46,xy)

•

en:normal isoelectric focusing of apolipoprotein ciii

•

en:normal calcium (female)

•

en:normal-to-slightly decreased glcnac phosphotransferase using artificial substrate (e.g., alpha-methylmannoside)

•

en:multiple tissue biopsies show lysosomal storage disease

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

en:thyroid dyshormonogenesis 3

•

en:increased chromosomal breaks in response to cross-linking agents and ionizing radiation

•

en:decreased cytochrome c oxidase activity in skin fibroblasts, liver, and skeletal muscle

•

en:decreased serum iron (in some patients)

•

en:decreased serum free thyroxine

•

en:decreased serum bun

•

en:decreased serum acth

•

en:decreased scad activity

•

en:decreased reversible oxygen-binding capacity (e.g. hb l (bombay) 141800.9999)

•

en:decreased plasma and urinary ornithine

•

en:decreased plasmalogens

•

en:decreased or low-normal serum parathyroid hormone (pth)

•

en:decreased methylmalonyl-coa mutase activity

•

en:decreased erythrocyte plasmalogen

•

en:decreased erythrocyte 2,3-diphosphoglycerate (2,3-dpg)

•

en:decreased dna polymerase-gamma (polg, 174763) activity

•

en:decreased csf 5-hydroxyindoleacetic acid (5hiaa)

•

en:decreased transcobalamin i in saliva, serum, gastric juice, and cerebrospinal fluid

•

en:decreased b cells

•

en:decreased beta-mannosidase activity in plasma, fibroblasts, and leukocytes

•

en:decreased adenosylcobalamin

•

en:decreased activity of pyruvate dehydrogenase complex

•

en:cytogenetic deletion of chromosome 19q13

•

en:cytochrome c oxidase deficiency in skeletal muscle and brain

•

en:cortisol does not decrease on dexamethasone suppression test

•

en:complex organic aciduria

•

en:chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin heavy chain (147100, 14q32) locus

•

en:antithrombin iii decreased

•

en:anti-factor viii positive

•

en:aminoaciduria (less common)

•

en:increased activity of the prpp synthetase 1 enzyme

•

en:accumulation of neutral lipids (triglycerides) in leukocytes, muscle cells, fibroblasts, and cardiomyocytes

•

en:decreased serum leptin

•

en:axonemes show normal structure

•

en:defective dna repair

•

en:folic acid deficiency

•

en:hyponatremic dehydration, rarely

•

en:defective glcnac-pi synthesis

•

en:hypogammaglobulinemia, profound

•

en:hypocalciuria

•

en:hypoketotic dicarboxylic aciduria (in some patients)

•

en:hypoalphalipoproteinemia

•

en:hypertryptophanemia

•

en:hypertriglyceridemia

•

en:hyperoxaluria

•

en:hepatic argininosuccinate synthetase deficiency

•

en:hemizygous deletion at 7q11.23

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

en:glutathione deficiency

•

en:fumarase deficiency

•

en:hypocalcemia (64% of adults)

•

en:fibronectin decreased

•

en:elevated hdl (2-6x normal) in homozygotes

•

en:fasting ketosis

•

en:diverse tissue cell types (vascular endothelial cells, adipocytes, schwann cells, leukocytes) have membrane-lined cytoplasmic vacuoles with amorphous and filamentous material

•

en:delta-1-pyrroline-5-carboxylate dehydrogenase activity decreased in fibroblasts or leukocytes

•

en:electron microscopy of patient respiratory cells shows defects in inner and outer dynein arms

•

en:elevated 8-dehydrocholesterol

•

en:dolichyl-p-man:man(5)glcnac(2)-pp-dolichyl mannosyltransferase deficiency

•

en:elevated inflammatory markers

•

en:elevated serum n,n-dimethylglycine (dmg)

•

en:eosinophilia, mild

•

en:elevated serum transaminases during infections

•

en:defect in double-stranded dna repair

•

en:elevated plasma ammonia

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:low-normal igm

•

en:lipopigment in extraneuronal cells

•

en:leukotriene c4 synthetase deficiency

•

en:low plasma citrulline

•

en:increased urinary sulfatides

•

en:increased urinary n-acetylated amino acids

•

en:increased urinary ketones

•

en:increased urinary homovanillic acid (hva)

•

en:increased urinary glutaric acid

•

en:increased urinary 3-oh-butyric acid

•

en:keratan sulfaturia in some patients

•

en:increased serum arylsulfatase a.

•

en:increased tissue levels of free fatty acids

•

en:increased serum vitamin b12

•

en:increased serum thyroid-stimulating hormone (tsh)

•

en:increased serum creatine kinase in patients with muscle involvement

•

en:increased serum bile acid concentration during pregnancy, resolves postpartum

•

en:increased serum beta-carotene

•

en:increased serum 1,25-dihydroxyvitamin d3

•

en:increased plasma pristanic acid

•

en:increased phytanic acid in body tissues and fluids

•

en:increased interleukin 10

•

en:increased csf, plasma, and urinary 3-methoxytyrosine

•

en:increased cerebrospinal fluid (csf) protein (>100mg/dl)

•

en:inappropriately increased urine osmolality

•

en:igm deficiency

•

en:low serum anti-mullerian hormone (amh) levels

•

en:no evidence of intrauterine infection in mother or newborn

•

en:lysosomal-like storage vacuoles in various tissues

•

en:patient fibroblasts and muscle show decreased activities of mitochondrial complexes i, iii, and iv

•

en:type i, classic, decreased antithrombin iii levels

•

en:hypoketotic hypoglycemia

•

en:transient eosinophilia in first decade

•

en:serum phosphate normal

•

en:serum folate normal

•

en:serum cholesterol normal

•

en:reduced platelet glycoprotein ib complex

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:raised tsh level

•

en:prominent leukocytosis (30,000/ml)

•

en:premature centromere division (pcd) of the x chromosome observed in cultured lymphocytes during metaphase

•

en:platelet aggregation decreased

•

en:paradoxical increase or no change in serum aldosterone and blood pressure after dexamethasone administration

•

en:markedly reduced iga levels

•

en:no hyperphenylalaninemia

•

en:no chromosome breakage

•

en:normal to mildly increased serum creatine kinase

•

en:normal serum levels of gamma-ggt (231950)

•

en:normal or mildly reduced serum cobalamin

•

en:normal leukocyte and platelet counts

•

en:normal g(s)-alpha levels (139320)

•

en:normal constitutional karyotype

•

en:normal arterial oxygen saturation

•

en:neutral hyperaminoaciduria

•

en:nadh-cytochrome b(5) reductase deficiency

•

en:moderate to severe thrombocytopenia (30-90 x 10(9)/l)

•

en:median mean platelet volume (mpv) 12.5fl

•

en:hyponatremia in infancy

•

•

en:hypocitraturia

•

en:decreased activities of multiple sulfatases

•

en:decreased transferrin increased serum iron

•

en:decreased serum cobalamin

•

en:decreased serum c3 (atypical hus)

•

en:decreased plasma free carnitine

•

en:decreased long-chain fatty acid oxidation

•

en:decreased levels of plasma factor viii in patients with type 2n

•

en:decreased galactokinase activity

•

en:decreased expression of gpi-anchored proteins on blood cells

•

en:decreased circulating cortisol level

•

en:decreased ciliary motility

•

en:decreased atp synthase in muscle, heart, liver, and brain

•

en:decreased alpha-n-acetylgalactosaminidase activity (less than 2% of control)

•

en:b lymphocytopenia

•

en:elevated 2-ketoglutarate (urine)

•

en:blood glucose normal

•

en:at least 2 complementation groups

•

en:antineutrophil cytoplasmic antibody

•

en:aneuploidy of the x chromosome

•

en:absence of beta-ureidopropionase activity and protein in liver biopsy

•

en:abnormal urinary oligosaccharides

•

en:abnormal serum liver enzyme levels

•

en:abnormal response of 25-hydroxyvitamin d-1-alpha-hydroxylase activity (609506) to hypophosphatemia

•

en:abnormal nuclear morphology

•

en:abnormal karyotype in single reported female patient 46, xx,r(18)(p14q23)

•

en:5-hiaa csf may be normal or decreased

•

en:1,25-dihydroxyvitamin d was elevated in childhood but deficient in adulthood

•

en:variably decreased activity of mitochondrial respiratory complexes i, iii, iv, and v in fibroblasts and muscle

•

en:deficiency or absence of p67-phox protein (type ii)

•

en:elevated 3-methylcitric acid

•

en:hypertriglyceridemia (rare)

•

en:fibroblasts demonstrate rapid growth with increased dna synthesis

•

en:hyperinsulinemic hypoglycemia, familial, 7

•

en:hyperglycinemia

•

en:hypercholesterolemia

•

en:homocystinuria (in some patients)

•

en:high-normal plasma triglyceride concentration (in heterozygotes)

•

en:hematuria, macroscopic and microscopic

•

•

en:granular osmiophilic deposits (grod) in cells resulting in 'curvilinear' profiles ultrastructurally

•

en:glucosuria, mild, intermittent

•

en:glcnac-transferase ii deficiency in fibroblast and mononuclear cells

•

en:generalized amyloid deposition

•

en:galactosemia

•

en:fasting chylomicronemia

•

en:elevated androstenedione and testosterone

•

en:enlarged cytoplasmic vacuoles in bone, muscle, and brain tissue

•

en:elevated serum transaminase levels

•

en:elevated serum iron and iron binding capacity

•

en:elevated serum glutamic oxaloacetic transaminase (sgot)

•

en:elevated sed rate

•

en:elevated pyruvate (in most patients)

•

en:elevated plasma levels of lp(a)

•

en:elevated plasma galactose (galactosemia)

•

en:elevated plasma alloisoleucine

•

en:elevated liver enzymes

•

en:elevated fibroblast free sialic acid

•

en:elevated fecal levels of protoporphyrin and coproporphyrin at all times

•

en:elevated ast and ldh, especially infantile-onset

•

en:undetectable dopamine beta-hydroxylase (dbh) protein in plasma, csf, or sympathetic fibers

•

en:detection by rt-pcr, southern blot analysis, and fish for primary diagnosis and follow up for residual disease

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

en:increased serum ige

•

en:low acth level

•

en:low-normal platelet count (89-290 x 10(9)/l)

•

en:ketonuria (1 patient)

•

en:ketoacidosis

•

en:keratan sulfate excretion in urine that decreases with age

•

en:iodide organification defect

•

en:4-hydroxyphenylactic aciduria

•

en:increased urine vanillactic acid (vla)

•

en:increased urinary porphyrin precursors porphobilinogen (pbg) and delta-aminolevulinic acid (ala) during acute attacks

•

en:increased urinary disaccharides (mannosyl-n-acetylglucosamine)

•

en:increased urinary catecholamines (with pheochromocytoma)

•

en:increased urinary, plasma, and csf l-2-hydroxyglutaric acid

•

en:increased serum gm-csf

•

en:low plasma free and total carnitine

•

en:increased serum ferritin (in some patients)

•

en:increased serum erythropoietin (epo, 133170)

•

en:increased serum bilirubin (in some patients)

•

en:increased serum beta-hexosaminidase

•

en:increased plasma globotriaosylsphingosine (lyso-gb3)

•

en:increased csf homovanillic acid (hva)

•

en:increased circulating renin level

•

en:incomplete n-glycosylation of cellular proteins

•

en:igg, decreased

•

en:hyposialylation of o-linked serum glycans

•

en:hypoproteinemia (in 1 patient)

•

en:hypomethylation of alpha-satellite repeats on chromosome 9

•

en:low or normal serum erythropoietin

•

en:low serum calcium

•

en:hyperkalemia (6.4 +/- 0.7 mm)

•

en:plasma ammonia not elevated

•

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

en:type 1 collagen overmodification

•

en:tonofibril defect (cross-beta-protein structure)

•

en:shortened telomeres (1 patient)

•

en:severe amyloid angiopathy

•

en:serum testosterone level normal

•

en:serum prolactin increased

•

en:serum cholesterol raised

•

en:serum bilirubin increased

•

en:raised c-reactive protein

•

en:proper antibody response to protein vaccinations

•

en:platelet factor 4 decreased

•

en:phytanic acid accumulation

•

en:methioninuria

•

en:percentage of bone-derived alkaline phosphatase is >60% in patients versus 40% in healthy adult subjects

•

en:pcs shows separate and splayed chromatids with discernible centromeres

•

en:no evidence of perinatal infection

•

en:no dicarboxylic aciduria

•

en:no chromosomal breakage

•

en:normal serum biotin concentration

•

en:normal pyridinoline excretion in urine

•

en:normal or increased urinary cyclic amp response to pth administration

•

en:normal or increased serum phosphate

•

en:myoglobinuria, particularly after physical exertion (25% of patients)

•

en:mucopolysaccharidosis type iiid

•

en:mildly elevated hdl in heterozygotes

•

en:microduplication of chromosome 5p13

•

en:hyperuricosuria

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

en:hypercholesterolemia, 350-550 mg/l in heterozygotes, 650-1000 mg/l in homozygotes

•

en:aspartylglycosaminuria

•

en:decreased carnitine palmitoyltransferase ii (cpt2) activity

•

en:decreased activity of thiopurine s-methyltransferase

•

en:decreased activity of the pyruvate dehydrogenase (pdh) complex

•

en:decreased activity of cytochrome c oxidase in muscle and fibroblasts

•

en:decreased acid sphingomyelinase activity (less than 5%)

•

en:decreased acid beta galactosidase protein and activity

•

en:continuous urinary iodine loss

•

en:chromosome inversion - inv2(p12q14) in 2 patients

•

en:breastfed offspring have transient decrease of plasma zinc levels

•

en:beta-galactosidase deficiency in fibroblasts and white blood cells

•

•

en:atrial abnormalities on electrocardiogram

•

en:argininosuccinic aciduria

•

en:decreased dihydroxyacetone phosphate acyltransferase (dhap-at) activity

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

en:aminoaciduria (1 patient)

•

en:aldolase a deficiency

•

en:acylglycinuria

•

en:absent axonal flare response to intradermal histamine injection

•

en:hyperchloremia (mean 109 mm)

•

en:abnormal urinary collagen-derived pyridinium crosslinks (absent glc-gal-pyd)

•

en:abnormal secretin test

•

en:abnormal response to human chorionic gonadotropin indicates decreased testosterone

•

en:abnormal oral glucose tolerance

•

en:abnormal karyotype in 3 patients involving distal 6p

•

en:abnormal glycosylation of serum transferrin, type 1 pattern

•

en:decreased circulating aldosterone level

•

en:absence of cpt ii protein

•

en:decreased intracellular fmr protein

•

en:elevated plasma ornithine (~10-fold)

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

en:hydrocortisone decreased

•

en:homocitrullinuria

•

en:high urinary excretion of inosine, 2'deoxyinosine, guanosine, and 2'deoxyguanosine

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

en:hematuria (less common)

•

en:granular osmiophilic deposits (grod) in cells resulting in 'fingerprint' profiles ultrastructurally

•

en:gm2-ganglioside accumulation

•

en:glycosuria (less common)

•

en:glycogen storage disease type v

•

en:fibroblasts accumulate dol-pp-glcnac2man5

•

en:factor viii deficiency

•

en:high-resolution electron microscopy tomography shows absence of projection c2b at the central pair (cp) apparatus of cilia

•

en:elevated plasma cholestanol

•

en:decreased or normal serum c3

•

en:elevated erythrocyte adenosine deaminase

•

en:decreased levels of plasma vwf antigen

•

en:decreased natural killer cells

•

en:decreased or absent serum citrulline

•

en:decreased or absent apolipoprotein a-i

•

en:decreased phosphoglycerate mutase 1 (pgam2) activity (2 to 6% of normal values)

•

en:decreased plasma apolipoprotein c-ii

•

en:decreased serum and salivary lactoferrin has been described in 1 family

•

en:decreased serum thiamine pyrophosphate

•

en:decreased urinary calcium and phosphate excretion

•

en:elevated androstenedione

•

en:decreased levels of plasma factor viii

•

en:mildly elevated urinary mevalonic acid

•

en:low ldl cholesterol

•

en:lysine-ketoglutarate reductase deficiency

•

en:low to normal serum calcium

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:low plasma arginine

•

en:low or absent iga levels

•

en:low or absent follicle stimulating hormone (fsh)

•

en:low level of c4 and c2

•

en:increased serum deoxyuridine

•

en:low-molecular-weight proteinuria

•

•

en:isochromosome often missing in lymphocyte

•

en:increased urinary hydroxyisovaleric acid

•

en:increased urinary cross-linked n-telopetide of type i collagen

•

en:increased tissue long-chain fatty acids

•

en:increased serum creatine kinase (1 family)

•

en:increased serum bile acids

•

en:increased serum alkaline phosphatase (in some patients)

•

en:muscle and liver tissue show decreased activities of mitochondrial complexes i, ii, and iii

•

en:mitochondrial malic enzyme reduced

•

en:saposin a deficiency (finding)

•

en:myoglobinuria with extreme exertion

•

en:reduced platelet aggregation response to collagen and thrombin

•

en:very long-chain fatty acids may be normal or increased

•

en:urine odor, maple syrup

•

en:undetectable serum l-transferrin (homozygous patient)

•

en:tyrosine iodination defect

•

en:translocation of chromosomes 9 and 13

•

en:t-cell deficit

•

en:serum creatine kinase may be normal or increased

•

en:serum alpha-1-antitrypsin (pi) deficiency

•

en:respiratory epithelial show lack of ciliary movement or abnormal movement

•

•

en:normal csf neurotransmitters

•

•

en:platelet antibody positive

•

en:patient cells show abnormal mitochondrial morphology

•

en:partial deficiency of factor xii(c)

•

en:pancreatic trypsinogen deficiency

•

en:normal transferrin isoelectric profile

•

en:normal plasma total homocysteine

•

en:normal or mildly decreased serum levels of free thyroid hormones

•

en:normal ellsworth-howard test, normal urinary camp response to parathyroid hormone (pth) administration

•

en:increased rai (radioactive iodine) uptake

◀

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6845930 • caches: c1=6 c2=1003 c3=1

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